Canonical Allele Identifier: CA346120703

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26195124-G-T
• MyVariant Identifiers: chr2:g.26417993G>T (hg19) ; chr2:g.26195124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195124G>T , CM000664.2:g.26195124G>T	GRCh38
NC_000002.11:g.26417993G>T , CM000664.1:g.26417993G>T	GRCh37
NC_000002.10:g.26271497G>T	NCBI36
NG_007121.1:g.54497C>A
NG_007121.2:g.54498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1588C>A (HADHA) MANE Select	ENSP00000370023.3:p.Leu530Ile
ENST00000492433.2:c.1588C>A (HADHA)	ENSP00000438039.2:p.Leu530Ile
ENST00000643057.1:c.*1479C>A (HADHA)	ENSP00000493761.1:n.*1479C>A
ENST00000643063.1:c.*634C>A (HADHA)	ENSP00000495353.1:n.*634C>A
ENST00000643233.1:c.*1479C>A (HADHA)	ENSP00000493880.1:n.*1479C>A
ENST00000644428.1:c.*212C>A (HADHA)	ENSP00000495560.1:n.*212C>A
ENST00000645274.1:c.1483C>A (HADHA)	ENSP00000493996.1:p.Leu495Ile
ENST00000646031.1:c.947C>A (HADHA)
ENST00000646483.1:c.1454C>A (HADHA)	ENSP00000496185.1:n.1454C>A
ENST00000380649.7:c.1588C>A (HADHA)	ENSP00000370023.3:p.Leu530Ile
ENST00000492433.1:c.46C>A (HADHA)	ENSP00000438039.1:p.Leu16Ile
NM_000182.4:c.1588C>A (HADHA)	NP_000173.2:p.Leu530Ile
XM_011532567.1:c.1684-7109G>T (GAREM2)	XP_011530869.1:n.1684-7109G>T
XM_011532567.3:c.1684-7109G>T (GAREM2)	XP_011530869.1:n.1684-7109G>T
NM_000182.5:c.1588C>A (HADHA) MANE Select	NP_000173.2:p.Leu530Ile